Vishnu Kommineni, MBBS, MD, MBA; Rathnamitreyee Vegunta, MBBS, MD; Venkata Rokkam, MD; Gurusaravanan Kutti Sridharan, MD
WMJ. 2026;125(3):410-413. Published August 11, 2026.
ABSTRACT
Introduction: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by impaired mucociliary clearance. To our knowledge, no cases of lung adenocarcinoma in patients with PCD have been previously reported.
Case Presentation: A 43-year-old White man with PCD presented with persistent cough and dysphonia. Chest imaging revealed a 4-cm mass in the left upper lobe, and positron emission tomography/computed tomography (PET/CT) demonstrated increased uptake in the mass, hilar lymph nodes, and sternum, suggesting metastatic disease. Biopsy of the lung mass confirmed adenocarcinoma, and magnetic resonance imaging of the brain identified a metastatic lesion. He was treated initially with pembrolizumab and stereotactic radiation therapy for a brain metastasis and had a mixed response. Consequently, chemotherapy with carboplatin and pemetrexed was added, resulting in complete response, with no fluorodeoxyglucose-avid lesions on follow-up PET imaging.
Discussion: With only 8 reported cases of lung cancer in patients with PCD, this is, to our knowledge, the first report of lung adenocarcinoma in a patient with PCD successfully treated with chemoimmunotherapy.
Conclusions: Although rare, clinicians should consider lung cancer in patients with PCD who present with persistent symptoms refractory to standard treatment.